Mutation testing
 

Hi everyone! I have low risk MDS, at least I think it still is; as of last BMB in Sept. this year. I keep reading journal articles whose links were posted here that mention certain mutations that I have never been tested for, like TET2, DNMT3A, TP53 etc. I asked my heme/onc about it and she didn't think they were mainstream yet. Questions: were you tested for mutations other than the abnormal cytogenetics like my 5q-, was it done on BMA or peripheral blood, are the tests covered by Medicare in the states, and is your treatment plan guided by the results?

It appears that I have reached the end of the Revlimid rope. My thyroid is hanging in there with slight hyperactivity, but it seems I have now developed a peripheral neuropathy causing balance issues, and the drug is now on hold. Since PN is not reversible, I will likely not go back on the Rev. My physician wants to put me on Vidaza now. I am thinking it is time to go to Ohio State, being the nearest Center of Exc., since the path is not clear for 5q- patients who fail Rev in whatever way. THey may offer thus testing; I plan on calling first. Thoughts, suggestions?

Cytogenetics versus genetic testing
 

At the AA&MDS conference in Miami last month Dr. Cogle was talking about gene testing. I asked him if that was the same as Cytogenetic testing. He said no, the cytogenetic testing is pretty much standard of care but it looks for chromosome changes - like deletions, translocations, etc. He said the genetic testing is becoming popular but it is not standard of care yet. He said they do it at the University of Florida - Gainesville where he practices. I asked my doctor at the Veteran's Administration in Gainesville (who is also a doctor at the University of Florida) and she said the VA would not pay for it. I believe the tests for TET2, DNMT3A, TP53 etc are for specific genes that would be on the chromosomes.


Happy Holidays

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Gene testing is not standard in Australia either. I had some (limited) gene testing done at the hospitals expense for research purposes and was found to have a number of mutations at least one of which had not been seen before, so it's significance is not known. It was found incidentally by looking at genes either side of the target gene. There is so much more for them to discover.

BTW, my blood was used for testing and it was sent to Sweden.

Follow up to previous answer
 

The web site http://ghr.nlm.nih.gov/chromosomes lists all the human chromosomes. If you select a particular chromosome, e.g., chromosome 7, you can then click on the link "Genes on chromosome 7" and see all the known genes on that chromosome. From there you can click on a particular gene and get a description of it including where it is located on the chromosome.

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